{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T14:30:03Z","timestamp":1777991403349,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gabriele\u2010de Vries syndrome is a rare autosomal dominant genetic disease characterized by global development delay\/intellectual disability, delayed language development, feeding difficulties, and distinctive facial dysmorphism. It is caused by pathogenic variants in <jats:italic>YY1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The current report describes a female patient with motor delay and a facial dysmorphism phenotype. We identified pathogenic mutations in the patient by whole\u2010exome sequencing and confirmed them by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygous frameshift mutation NM_003403.5:c.458_476del (p. V153fs*97) in the <jats:italic>YY1<\/jats:italic> gene was detected in the proband. Finally, we provide a case\u2010based review of the clinical features associated with Gabriele\u2010de Vries syndrome. A total of 28 patients with genetic abnormalities and clinical phenotypes have been reported in the literature thus far.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The mutation site is reported for the first time, and its discovery would expand the mutation spectrum of the <jats:italic>YY1<\/jats:italic> gene. The main clinical manifestations of Gabriele\u2010de Vries syndrome are developmental delay\/intellectual disability, craniofacial dysplasia, intrauterine growth delay, low birth weight, feeding difficulties, and rare congenital malformations. Genetic tests are crucial techniques for its diagnosis because of its nonspecific clinical manifestations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2281","type":"journal-article","created":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T05:36:34Z","timestamp":1693632994000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical analysis of Gabriele\u2010de Vries caused by <scp><i>YY1<\/i><\/scp> mutations and literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-3982-0465","authenticated-orcid":false,"given":"Jingjing","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatric Rehabilitation Medicine Children's Hospital Affiliated to Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaonan","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation Medicine Children's Hospital Affiliated to Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Lyn","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation Medicine Children's Hospital Affiliated to Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Liu","sequence":"additional","affiliation":[{"name":"Henan Neurodevelopment Engineering Research Center for Children, Henan Key Laboratory of Children's Genetics and Metabolic Diseases Children's Hospital Affiliated to Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongxiao","family":"Li","sequence":"additional","affiliation":[{"name":"Henan Neurodevelopment Engineering Research Center for Children, Henan Key Laboratory of Children's Genetics and Metabolic Diseases Children's Hospital Affiliated to Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Shang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation Medicine Children's Hospital Affiliated to Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1615\/critrevoncog.v16.i3\u20104.20"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000385"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61731"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.12.003"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac230"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/mcb.19.10.7237"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011\u2010022\u201001024\u20102"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.05.006"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12448"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/children10040623"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.2337\/db21\u20100908"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40626"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1582"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.592164"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.712"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac233"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28547"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2281","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:25:18Z","timestamp":1706531118000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2281"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2281"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2281","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"2023-04-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2281"}}